Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383321 | SCV001582410 | pathogenic | Treacher Collins syndrome 1 | 2020-09-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976). This variant has not been reported in the literature in individuals with TCOF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys528Argfs*68) in the TCOF1 gene. It is expected to result in an absent or disrupted protein product. |